Osteogenesis Imperfecta (brittle bone disease) Research 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
We report on four patients (three adults and one adolescent) with a severe deforming form of OI. All patients presented no abnormalities at birth, frequent long bone and vertebrae fractures (mainly during childhood), marked short stature, severe bone deformities, chronic mild to moderate pain, and severe limitation of mobility, with three being completely wheelchair bound. Blue sclera and dentinogenesis imperfecta were absent, although some patients presented tooth, ophthalmological, and/or cardiac features. Radiographic findings included, among others, thin diaphysis and popcorn calcifications, both of which are non-speci...
Source: European Journal of Medical Genetics - October 15, 2023 Category: Genetics & Stem Cells Authors: Andr é M Travessa Patr ícia Dias Joana Rosmaninho-Salgado Miriam Aza-Carmona Oana Moldovan Francisca D íaz-González F átima Godinho Jos é Carlos Romeu Filipa Oliveira-Ramos Maria do C éu Barreiros S érgio B Sousa Karen E Heath Ana Berta Sousa Source Type: research
Photoanthropometric craniofacial parameters in individuals with osteogenesis imperfecta
CONCLUSIONS: OI patients present distinct photoanthropometric parameters inherent in this condition.PMID:37823300 | DOI:10.4317/medoral.26083 (Source: Medicina Oral, Patologia Oral y Cirugia Bucal)
Source: Medicina Oral, Patologia Oral y Cirugia Bucal - October 12, 2023 Category: ENT & OMF Authors: F-F Mar çal L-L Lopes F-W Costa L-M Moreno J-L J únior C-M J únior P-G Silva E-M Ribeiro C-S Fonteles T-R Ribeiro Source Type: research
